Canonical Allele Identifier: CA2582473467

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105651-GCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105653_11105656del , CM000681.2:g.11105653_11105656del	GRCh38
NC_000019.9:g.11216329_11216332del , CM000681.1:g.11216329_11216332del	GRCh37
NC_000019.8:g.11077329_11077332del	NCBI36
NG_009060.1:g.21273_21276del , LRG_274:g.21273_21276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+53_952+56del	ENSP00000252444.6:n.952+53_952+56del
ENST00000559340.2:c.694+53_694+56del	ENSP00000453696.2:n.694+53_694+56del
ENST00000560467.2:c.694+53_694+56del	ENSP00000453513.2:n.694+53_694+56del
ENST00000558518.6:c.694+53_694+56del MANE Select	ENSP00000454071.1:n.694+53_694+56del
ENST00000252444.9:c.948+53_948+56del
ENST00000455727.6:c.314-1739_314-1736del	ENSP00000397829.2:n.314-1739_314-1736del
ENST00000535915.5:c.571+53_571+56del	ENSP00000440520.1:n.571+53_571+56del
ENST00000545707.5:c.314-912_314-909del	ENSP00000437639.1:n.314-912_314-909del
ENST00000557933.5:c.694+53_694+56del	ENSP00000453557.1:n.694+53_694+56del
ENST00000558013.5:c.694+53_694+56del	ENSP00000453346.1:n.694+53_694+56del
ENST00000558518.5:c.694+53_694+56del	ENSP00000454071.1:n.694+53_694+56del
ENST00000560467.1:c.294+53_294+56del
NM_000527.4:c.694+53_694+56del , LRG_274t1:c.694+53_694+56del	NP_000518.1:n.694+53_694+56del
NM_001195798.1:c.694+53_694+56del	NP_001182727.1:n.694+53_694+56del
NM_001195799.1:c.571+53_571+56del	NP_001182728.1:n.571+53_571+56del
NM_001195800.1:c.314-1739_314-1736del	NP_001182729.1:n.314-1739_314-1736del
NM_001195803.1:c.314-912_314-909del	NP_001182732.1:n.314-912_314-909del
XM_011528010.1:c.694+53_694+56del	XP_011526312.1:n.694+53_694+56del
XM_011528011.1:c.314-912_314-909del	XP_011526313.1:n.314-912_314-909del
XR_244074.2:n.844+53_844+56del
XM_011528010.2:c.694+53_694+56del	XP_011526312.1:n.694+53_694+56del
XR_001753685.2:n.811+53_811+56del
XR_001753686.2:n.811+53_811+56del
NM_000527.5:c.694+53_694+56del MANE Select	NP_000518.1:n.694+53_694+56del
NM_001195798.2:c.694+53_694+56del	NP_001182727.1:n.694+53_694+56del
NM_001195799.2:c.571+53_571+56del	NP_001182728.1:n.571+53_571+56del
NM_001195800.2:c.314-1739_314-1736del	NP_001182729.1:n.314-1739_314-1736del
NM_001195803.2:c.314-912_314-909del	NP_001182732.1:n.314-912_314-909del